| http://purl.uniprot.org/citations/24581741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24581741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24581741 | http://www.w3.org/2000/01/rdf-schema#comment | "Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. We report here the identification of five distinct homozygous xylosyltransferase 1 (XYLT1) mutations in seven DBQD type 2 subjects from six consanguineous families. Among the five mutations, four were expected to result in loss of function and a drastic reduction of XYLT1 cDNA level was demonstrated in two cultured individual fibroblasts. Because xylosyltransferase 1 (XT-I) catalyzes the very first step in proteoglycan (PG) biosynthesis, we further demonstrated in the two individual fibroblasts a significant reduction of cellular PG content. Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. This observation sheds light on the key role of the XT-I during the ossification process."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.01.020"xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.01.020"xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Mortier G."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Mortier G."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Leroy J.G."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Leroy J.G."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Bole-Feysot C."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Bole-Feysot C."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Alanay Y."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Alanay Y."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Tuysuz B."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Tuysuz B."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Huber C."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Huber C."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Bui C."xsd:string |
| http://purl.uniprot.org/citations/24581741 | http://purl.uniprot.org/core/author | "Bui C."xsd:string |